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Growth plate gene involment and isolated short stature

Endocrine volume 71, pages 28–34 (2021)Cite this article

Abstract

Purpose

Short stature is a common clinical presentation, thus it is widely accepted that it is a polygenic trait. However, genome wide association and next generation sequencing studies have recently challenged this view, suggesting that many of the children classified as idiopathic short stature could instead have monogenic defects. Linear growth is determined primarily by chondrogenesis at the growth plate. This process results from chondrocyte proliferation, hypertrophy, and extracellular matrix secretion, and it is perfectly coordinated by complex networks of local paracrine and endocrine factors. Alterations in genes which control growth plate development can explain a large number of cases of isolated short stature, allowing an etiological diagnosis.

Methods/Results

We reviewed recent data on the genetic alterations in fundamental cellular processes, paracrine signaling, and cartilage matrix formation associated with impaired growth plate chondrogenesis. In particular we focused on growth plate gene involvement in nonsyndromic short stature.

Conclusions

The identification of genetic basis of growth failure will have a significant impact on the care of children affected with short stature.

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Authors and Affiliations

  1. Paediatric Unit, Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, Bari, Italy

    Maria Felicia Faienza & Mariangela Chiarito

  2. Department of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University of Bari “A. Moro”, Bari, Italy

    Giacomina Brunetti

  3. Neonatal Intensive Care Unit, Di Venere Hospital, Bari, Italy

    Gabriele D’Amato

Authors
  1. Maria Felicia Faienza
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  2. Mariangela Chiarito
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  3. Giacomina Brunetti
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  4. Gabriele D’Amato
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Contributions

M.F.F. designed the study and prepared the first draft of the paper. She is guarantor. M.C. and G.B. design the figures and revised critically the paper; G.D. search the literature data and revised the final draft. All authors revised the paper critically for intellectual content and approved the final version. All authors agree to be accountable for the work and to ensure that any questions relating to the accuracy and integrity of the paper are investigated and properly resolved.

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Correspondence to Maria Felicia Faienza.

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Faienza, M.F., Chiarito, M., Brunetti, G. et al. Growth plate gene involment and isolated short stature. Endocrine 71, 28–34 (2021). https://doi.org/10.1007/s12020-020-02362-w

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Keywords

  • Growth plate
  • Isolated short stature
  • Gene
  • Children
  • SHOX
  • Aggrecan